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Items: 1 to 50 of 69

1.

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Hannah-Shmouni F, Stratakis CA, Sechi A, Langeveld M, Hiwot TG, Tchan MC, Mochel F, Lynd LD, Sirrs S.

Lancet Diabetes Endocrinol. 2019 Feb;7(2):82-84. doi: 10.1016/S2213-8587(18)30369-3. No abstract available.

PMID:
30683215
2.

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.

Sharma MA, Lee JYJ, Tam A, Sattha B, Mackenzie IR, Vallance HD, Sirrs S, Hannah-Shmouni F, Côté HCF, Mattman A.

Mitochondrion. 2019 May;46:298-301. doi: 10.1016/j.mito.2018.08.002. Epub 2018 Aug 13.

PMID:
30114489
3.

When zebras run with horses - inherited metabolic diseases come mainstream.

Sirrs S, Lynd L.

Rev Endocr Metab Disord. 2018 Mar;19(1):1-3. doi: 10.1007/s11154-018-9456-1. No abstract available.

PMID:
30101364
4.

Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients.

Leung J, Selvage C, Bosdet T, Branov J, Rosen-Heath A, Bishop C, Sirrs S, Horvath G.

Mol Genet Metab Rep. 2018 Apr 5;15:100-105. doi: 10.1016/j.ymgmr.2018.03.008. eCollection 2018 Jun.

5.

Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.

Li AM, Thyagu S, Maze D, Schreiber R, Sirrs S, Stockler-Ipsiroglu S, Sutherland H, Vercauteren S, Schultz KR.

Pediatr Hematol Oncol. 2018 Feb;35(1):45-51. doi: 10.1080/08880018.2018.1440675. Epub 2018 Apr 13.

PMID:
29652549
6.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

7.

Echocardiographic Assessment of Patients with Fabry Disease.

Yeung DF, Sirrs S, Tsang MYC, Gin K, Luong C, Jue J, Nair P, Lee PK, Tsang TSM.

J Am Soc Echocardiogr. 2018 Jun;31(6):639-649.e2. doi: 10.1016/j.echo.2018.01.016. Epub 2018 Mar 29. Review.

PMID:
29606333
8.

Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.

Laule C, Vavasour IM, Shahinfard E, Mädler B, Zhang J, Li DKB, MacKay AL, Sirrs SM.

J Neuroimaging. 2018 May;28(3):252-255. doi: 10.1111/jon.12502. Epub 2018 Feb 26.

PMID:
29479774
9.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

10.

Transplantation as disease modifying therapy in adults with inherited metabolic disorders.

Sirrs S, Hannah-Shmouni F, Nantel S, Neuberger J, Yoshida EM.

J Inherit Metab Dis. 2018 Sep;41(5):885-896. doi: 10.1007/s10545-018-0141-z. Epub 2018 Feb 1. Review.

PMID:
29392586
11.

Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease.

Huang J, Khan A, Au BC, Barber DL, López-Vásquez L, Prokopishyn NL, Boutin M, Rothe M, Rip JW, Abaoui M, Nagree MS, Dworski S, Schambach A, Keating A, West ML, Klassen J, Turner PV, Sirrs S, Rupar CA, Auray-Blais C, Foley R, Medin JA.

Mol Ther Methods Clin Dev. 2017 May 12;5:241-258. doi: 10.1016/j.omtm.2017.05.003. eCollection 2017 Jun 16.

12.

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

Wong EM, Lehman A, Acott P, Gillis J, Metzger DL, Sirrs S.

JIMD Rep. 2017;36:79-84. doi: 10.1007/8904_2016_38. Epub 2017 Feb 4.

13.

Clinical Reasoning: A complicated case of MELAS.

Randhawa N, Wilson L, Mann S, Sirrs S, Benavente O.

Neurology. 2016 Oct 18;87(16):e189-e195. No abstract available.

PMID:
27754914
14.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

15.

Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.

Hoitsema K, Amato D, Khan A, Sirrs S, Choy FY.

Meta Gene. 2016 Mar 23;9:47-51. doi: 10.1016/j.mgene.2016.03.003. eCollection 2016 Sep.

16.

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.

Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, Dupré N, Dodig D, Genge A, Venance SL, Korngut L, Raiman J, Khan A.

Can J Neurol Sci. 2016 Jul;43(4):472-85. doi: 10.1017/cjn.2016.37. Epub 2016 Apr 8. Review.

PMID:
27055517
17.

Agreement of Point-of-Care Capillary Glycated Hemoglobin Levels with Conventional Screening Tests for Diabetes Mellitus in a Canadian First Nations Population.

Mackenzie-Feder J, Jin A, Seccombe DW, Sirrs S, Neufeld C, Dawson KG.

Can J Diabetes. 2016 Jun;40(3):242-6. doi: 10.1016/j.jcjd.2015.11.003. Epub 2016 Mar 22.

PMID:
27026222
18.

The Genetic Challenges and Opportunities in Advanced Heart Failure.

Hannah-Shmouni F, Seidelmann SB, Sirrs S, Mani A, Jacoby D.

Can J Cardiol. 2015 Nov;31(11):1338-50. doi: 10.1016/j.cjca.2015.07.735. Epub 2015 Aug 21. Review.

19.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F; SFEIM-A Study Group, Tchan MC.

JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 9.

20.

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman WW, Hurwitz TA, Sinclair G, Kaczocha M.

Orphanet J Rare Dis. 2015 Mar 28;10:38. doi: 10.1186/s13023-015-0248-3.

21.

Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria.

Bosdet T, Branov J, Selvage C, Yousefi M, Sirrs S.

JIMD Rep. 2015;21:97-102. doi: 10.1007/8904_2014_399. Epub 2015 Mar 3.

22.

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

van Karnebeek CD, Mohammadi T, Tsao N, Sinclair G, Sirrs S, Stockler S, Marra C.

Mol Genet Metab. 2015 Feb;114(2):226-32. doi: 10.1016/j.ymgme.2014.07.004. Epub 2014 Jul 15.

PMID:
25095726
23.

Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

van Karnebeek C, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S.

JIMD Rep. 2015;15:113-6. doi: 10.1007/8904_2014_305. Epub 2014 Apr 10.

24.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
25.

Outcomes of patients treated through the Canadian Fabry disease initiative.

Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S, West ML; CFDI investigators.

Mol Genet Metab. 2014 Apr;111(4):499-506. doi: 10.1016/j.ymgme.2014.01.014. Epub 2014 Feb 2.

PMID:
24534763
26.

Treatable inborn errors of metabolism causing neurological symptoms in adults.

Sirrs SM, Lehman A, Stockler S, van Karnebeek CD.

Mol Genet Metab. 2013 Dec;110(4):431-8. Review.

PMID:
24427801
27.

Phenotypic variability of Krabbe disease across the lifespan.

Liao P, Gelinas J, Sirrs S.

Can J Neurol Sci. 2014 Jan;41(1):5-12. Review.

PMID:
24384330
28.

Glucocorticoid-induced hyperglycemia is prevalent and unpredictable for patients undergoing cancer therapy: an observational cohort study.

Harris D, Barts A, Connors J, Dahl M, Elliott T, Kong J, Keane T, Thompson D, Stafford S, Ur E, Sirrs S.

Curr Oncol. 2013 Dec;20(6):e532-8. doi: 10.3747/co.20.1499.

29.

Cystinosis with sclerotic bone lesions.

Sirrs S, Munk P, Mallinson PI, Ouellette H, Horvath G, Cooper S, Da Roza G, Rosenbaum D, O'Riley M, Nussbaumer G, Hoang LN, Lee CH.

JIMD Rep. 2014;13:27-31. doi: 10.1007/8904_2013_256. Epub 2013 Oct 6.

30.

Variation in chitotriosidase values measured on simultaneous samples by two commercial laboratories.

Sirrs S, Casey R, Patterson MA, McNeil C, Paquin W, Amato D.

Am J Hematol. 2013 Nov;88(11):980. doi: 10.1002/ajh.23542. Epub 2013 Aug 30. No abstract available.

31.

Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation.

Hannah-Shmouni F, Sirrs S, Mezei MM, Waters PJ, Mattman A.

JIMD Rep. 2014;12:17-23. doi: 10.1007/8904_2013_239. Epub 2013 Jul 12.

32.

Stem cell transplantation for adult-onset krabbe disease: report of a case.

Sharp ME, Laule C, Nantel S, Mädler B, Aul RB, Yip S, Sirrs S.

JIMD Rep. 2013;10:57-9. doi: 10.1007/8904_2012_203. Epub 2012 Dec 29.

33.

Barriers to transplantation in adults with inborn errors of metabolism.

Sirrs SM, Faghfoury H, Yoshida EM, Geberhiwot T.

JIMD Rep. 2013;8:139-44. doi: 10.1007/8904_2012_171. Epub 2012 Aug 22.

34.

Safety of statin therapy in patients with mitochondrial diseases.

Hannah-Shmouni F, Al-Sarraf A, Frohlich J, Mezei MM, Sirrs S, Mattman A.

J Clin Lipidol. 2013 Mar-Apr;7(2):182. doi: 10.1016/j.jacl.2012.08.003. Epub 2012 Aug 10. No abstract available.

PMID:
23415441
35.

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.

Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J, Vallance H.

J Inherit Metab Dis. 2014 Mar;37(2):207-13. doi: 10.1007/s10545-012-9578-7. Epub 2013 Jan 8.

PMID:
23296367
36.

Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

Gelinas J, Liao P, Lehman A, Stockler S, Sirrs S.

Neurology. 2012 Nov 6;79(19):e170-2. doi: 10.1212/WNL.0b013e3182735c8b. No abstract available.

PMID:
23128445
37.

Acylcarnitine profile in thyroid disease.

Wong S, Hannah-Shmouni F, Sinclair G, Sirrs S, Dahl M, Mattman A.

Clin Biochem. 2013 Jan;46(1-2):180-3. doi: 10.1016/j.clinbiochem.2012.10.006. Epub 2012 Oct 23.

PMID:
23089106
38.

Carnitine deficiency presenting with encephalopathy and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report.

Ling P, Lee DJ, Yoshida EM, Sirrs S.

J Med Case Rep. 2012 Jul 30;6:227. doi: 10.1186/1752-1947-6-227.

39.

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S.

Can J Neurol Sci. 2012 Jul;39(4):516-9.

PMID:
22728861
40.
41.

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F.

Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23.

PMID:
22528245
42.

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.

Lehman A, Mattman A, Sin D, Pare P, Zong Z, d'Azzo A, Campos Y, Sirrs S, Hinek A.

Mol Genet Metab. 2012 May;106(1):99-103. doi: 10.1016/j.ymgme.2012.02.004. Epub 2012 Feb 8.

PMID:
22386972
43.

Recurrent exercise-induced rhabdomyolysis.

Hannah-Shmouni F, McLeod K, Sirrs S.

CMAJ. 2012 Mar 6;184(4):426-30. doi: 10.1503/cmaj.110518. Epub 2012 Feb 6. No abstract available.

44.

Primary hyperparathyroidism: an overview.

Mackenzie-Feder J, Sirrs S, Anderson D, Sharif J, Khan A.

Int J Endocrinol. 2011;2011:251410. doi: 10.1155/2011/251410. Epub 2011 Jun 2.

45.

Enzyme replacement therapy for Fabry disease: some answers but more questions.

Alfadhel M, Sirrs S.

Ther Clin Risk Manag. 2011;7:69-82. doi: 10.2147/TCRM.S11987. Epub 2011 Feb 25.

46.

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.

Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.

J Cardiol. 2011 May;57(3):345-53. doi: 10.1016/j.jjcc.2010.12.004. Epub 2011 Feb 17.

47.

Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.

Pfeffer G, Sirrs S, Wade NK, Mezei MM.

Can J Neurol Sci. 2011 Jan;38(1):119-23.

PMID:
21156440
48.

The Fabrazyme shortage--a call to action for metabolic physicians.

Sirrs S.

Mol Genet Metab. 2011 Jan;102(1):4-5. doi: 10.1016/j.ymgme.2010.11.002. Epub 2010 Dec 15.

PMID:
21111645
49.

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang XK, Gagnon R.

Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14. doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14.

PMID:
20716442
50.

Cardiovascular and metabolic effects of medroxyprogesterone acetate versus conjugated equine estrogen after premenopausal hysterectomy with bilateral ovariectomy.

Kalyan S, Hitchcock CL, Sirrs S, Pudek M, Prior JC.

Pharmacotherapy. 2010 May;30(5):442-52. doi: 10.1592/phco.30.5.442.

PMID:
20411996

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